Your Tag: genetic variation

Knowledge pill

Genetic and molecular foundations: Understanding the DNA roots of rare diseases

When it comes to rare diseases, more than 70% have a genetic origin. To truly understand these conditions—and find ways to treat them—we need to start at the root: our DNA.
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PROTRIDER: protein abundance outlier detection from mass spectrometry-based proteomics data with a conditional autoencoder

PROTRIDER is a method for detecting aberrant protein expression from mass spectrometry data that outperforms existing approaches and identifies enrichments of pathogenic variants, supporting its application in rare disease diagnostics and cancer proteomics.

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